hMLH1及hMSH2蛋白免疫组化结合微卫星不稳定性检测在遗传性非息肉病性结直肠癌家系筛选中的作用

The role of the immunohistochemistry for hMLH1 and hMSH2 with detection of microsatellite instability to identify the kindreds with hereditary nonpolyposis colorectal cancer

目的 探讨hMLH1及hMSH2蛋白免疫组化结合微卫星不稳定性检测在遗传性非息肉病性结直肠癌家系筛选中的敏感性、特异性及临床应用价值。 方法 对 12例符合Amsterdam标准的HNPCC患者和 16例散发性结直肠癌患者的肿瘤标本进行hMLH1及hMSH2蛋白免疫组化检查和微卫星不稳定性检测。 结果 hMLH1及hMSH2蛋白免疫组化筛选HNPCC家系的敏感性为91 7% ,特异性为 87 5 % ;微卫星不稳定性检测的敏感性为 10 0 % ,特异性为 75 0 % ;两者结合敏感性为 91 7% ,特异性为 93 8%。 结论 hMLH1及hMSH2蛋白免疫组化结合微卫星不稳定性检测筛选HNPCC家系敏感性和特异性明显提高 ,而且方法简单、经济 ,适合在临床广泛应用。

Objective To investigate the specificity and sensitivity of the immunohistochemistry for hMLH1 and hMSH2 with detection of microsatellite instability (MSI) to identify the kindreds with hereditary nonpolyposis colorectal cancer and to analyse its value in clinical practice. Method Specimens of 16 cases with HNPCC and 16 cases with sporadic colorectal cancer were detected by immunostaining with hMLH1 and hMSH2 and MSI was also detected. Results The specificity and sensitivity of the immunohistochemistry for hMLH1 and hMSH2 were 91.7% and 87.5% respectively.The specificity and sensitivity of MSI were 100% and 75.0%. By combining two methods, the specificity and sensitivity were 91.7% and 93.8% respectively. Conclusions By combinatinon of the immunohistochemistry for hMLH1 and hMSH2 and detection of MSI to identify the kindreds with HNPCC, the specificity and sensitivity are improved which is better than to use either of them alone. And it is very easy and cheap that it can be used in clinics.